Canonical Allele Identifier: CA382896662

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 557439
• ClinVar RCV Id: RCV000673582
• dbSNP Id: rs1384684015
• gnomAD v3: 11-119025708-C-G
• gnomAD v4: 11-119025708-C-G
• MyVariant Identifiers: chr11:g.118896418C>G (hg19) ; chr11:g.119025708C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025708C>G , CM000673.2:g.119025708C>G	GRCh38
NC_000011.9:g.118896418C>G , CM000673.1:g.118896418C>G	GRCh37
NC_000011.8:g.118401628C>G	NCBI36
NG_013331.1:g.10198G>C , LRG_187:g.10198G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1178G>C
ENST00000697845.1:n.2167G>C
ENST00000697846.1:n.1178G>C
ENST00000697847.1:n.1251G>C
ENST00000697848.1:n.1264G>C
ENST00000697849.1:n.3282G>C
ENST00000697850.1:n.1473G>C
ENST00000697851.1:n.2822+259G>C
ENST00000638186.1:n.1288+259G>C
ENST00000638360.1:n.1120+259G>C
ENST00000638925.1:n.1253+259G>C
ENST00000650539.1:n.1440G>C
ENST00000330775.9:c.984+259G>C	ENSP00000476242.2:n.984+259G>C
ENST00000357590.9:c.1034G>C	ENSP00000476176.2:p.Gly345Ala
ENST00000524428.5:n.1220+259G>C
ENST00000525039.5:n.1458G>C
ENST00000525102.5:n.1742+259G>C
ENST00000525372.5:n.1082+259G>C
ENST00000526275.5:n.1766+259G>C
ENST00000527992.5:n.1212+259G>C
ENST00000529510.5:n.672+259G>C
ENST00000530407.5:n.1134+259G>C
ENST00000532085.1:n.4624G>C
ENST00000538950.5:c.765+259G>C	ENSP00000475991.2:n.765+259G>C
ENST00000545985.5:c.984+259G>C	ENSP00000475241.2:n.984+259G>C
NM_001164277.1:c.984+259G>C , LRG_187t1:c.984+259G>C	NP_001157749.1:n.984+259G>C
NM_001164278.1:c.1034G>C	NP_001157750.1:p.Gly345Ala
NM_001164279.1:c.765+259G>C	NP_001157751.1:n.765+259G>C
NM_001164280.1:c.984+259G>C	NP_001157752.1:n.984+259G>C
NM_001467.5:c.984+259G>C	NP_001458.1:n.984+259G>C
NM_001164278.2:c.1034G>C	NP_001157750.1:p.Gly345Ala
NM_001164279.2:c.765+259G>C	NP_001157751.1:n.765+259G>C
NM_001164280.2:c.984+259G>C	NP_001157752.1:n.984+259G>C
NM_001467.6:c.984+259G>C	NP_001458.1:n.984+259G>C
NM_001164277.2:c.984+259G>C MANE Select	NP_001157749.1:n.984+259G>C